Inside the Years Spent Waiting for a Rare Diagnosis
Prevention & Treatment With over 7,000 rare diseases identified today, it’s unsurprising that health care providers struggle to properly diagnose patients who present with a complex set of symptoms.
On average it takes most rare disease patients eight years to receive an accurate diagnosis, typically having endured consultations with more than 10 physician specialists. Closing that gap remains a key priority for the rare disease community and advocates who recognize the physical and emotional toll this takes on them and their loved ones.
An urgent case
More than 30 million Americans are living with one or more rare diseases—that’s 1 in 10 people. But while a disease affecting fewer than 200,000 people is considered rare in the U.S., most identified rare disease populations are much smaller and shrinking every day with advancements in medical innovation and research.
"Despite the challenges in diagnosing rare conditions, there is reason to hope."
The problem is heartbreaking. For example, a child with a rare bone disorder endured four surgeries to correct a ”lazy eye” before it became evident the condition was caused by a rare disease that almost left him blind. For countless others, the failure to reach an accurate and timely diagnosis can lead to years of pain, depression, job loss, inability to care for family, permanent organ damage and death.
Despite the challenges in diagnosing rare conditions, there is reason to hope. Advancements in scientific discovery, genomic sequencing, emphasis on newborn screening and patient advocacy have raised awareness for rare diseases and are laser focused on closing the diagnosis gap.
Furthermore, government programs including those at the National Institutes of Health, public policy initiatives, patient advocacy and investment in drug discovery all contribute improving diagnosis and treatment for rare diseases and strive to close the diagnosis gap for rare diseases.